Color vision defect, Coxa vara, Cupped ribs, Degeneration of anterior horn cells, Delayed skeletal maturation, Depression, Downslanted palpebral fissures, Dyspnea, Emotional lability, Fatigable weakness of bulbar muscles, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal bossing, Generalized muscle weakness, Hypertelorism, Irregular iliac crest, Laryngospasm, Muscle spasm, Narrow greater sciatic notch, Nausea and vomiting, Neurodegeneration, Nuclear cataract, Nyctalopia, Nystagmus, Optic atrophy, Pain, Paralysis, Photophobia, Platyspondyly, Proptosis, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Reduced sperm motility, Respiratory insufficiency, Retinal degeneration, Retinal dystrophy, Rhizomelia, Rod-cone dystrophy, Short femoral neck, Short nose, Short stature, Skeletal muscle atrophy, Spasticity, Splenomegaly, Spondylometaphyseal dysplasia, Telecanthus, Thoracic hypoplasia, Visual impairment, Xerostomia